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A rare inflammatory disease of the aorta and its major branches, with its strongest genetic risk in the same immune region — HLA — that shapes risk for many other autoimmune diseases, and a genome-wide relatedness closest to inflammatory bowel disease.
What this condition connects to
Prevalence
A rare disease; the largest genetic study to date combined 1,226 affected individuals across five populations (Ortiz-Fernandez et al. 2021, PMID:33308445) — small by GWAS standards precisely because the underlying disease is rare.
Inheritance
Polygenic, with by far the strongest single signal in the HLA region (HLA-B*52 and related alleles). Ten common variants are on this site; a 2018 study also found a statistically significant epistasis effect between two of this page's loci (HLA-B*52 and LILRA3) rather than purely additive risk.
Takayasu arteritis is a rare inflammatory disease of large arteries — chiefly the aorta and its major branches — that can narrow or damage vessel walls over time. It mostly affects women, often beginning before age 40. This page holds 10 variants from three genetic studies.
HLA-B*52 and the HLA region: the strongest known risk factor
The single best-established genetic risk factor for Takayasu arteritis is the HLA-B*52 allele, in the major histocompatibility complex (HLA) region that also shapes risk for many other immune-mediated diseases. A 2013 study of Turkish and North American cohorts, genotyping roughly 200,000 variants, confirmed two independent HLA-region signals — rs12524487 near HLA-B/MICA (odds ratio 3.29) and rs113452171 near HLA-DQB1/HLA-DRB1 (odds ratio 2.34) — plus a non-HLA locus at FCGR2A/FCGR3A whose risk allele raises FCGR2A gene expression.
A 2018 Japanese-cohort study went further, finding a statistically significant epistasis (gene-gene interaction) effect between HLA-B*52 itself and a separate risk variant near LILRA3, a gene for a soluble receptor of HLA class I molecules — evidence that this disease's genetic risk is not simply additive across its loci.
The largest study to date: five populations, and a link to inflammatory bowel disease
A 2021 study combined 6,670 individuals (1,226 with Takayasu arteritis) from five different populations — by far the largest genetic study of this rare disease. It confirmed the HLA risk factors, reinforced three known non-HLA loci (IL12B, PTK2B, and a region on chromosome 21q22 that functional analysis points to ETS2 as the likely causal gene), and found four new ones. Comparing Takayasu arteritis's genetic profile against hundreds of other traits genome-wide, the study reports its closest relatedness is to inflammatory bowel disease — a finding the study's own authors state directly, not an inference made on this page. Epigenetic patterns at the risk loci point to monocytes and B cells as the relevant immune cell types.
Positions joined since this page was written
What this is The text above discusses the variants this page was written around. Since then the catalogue has joined 1 more position to it, by shared trait or shared paper. They are listed here by the paper each came from; the text does not describe them, and each variant page carries that study's own record.
Renauer PA et al. 2015, Arthritis & rheumatology (Hoboken, N.J.)rs4410768 (CDSN) — PMID:25604533
Clinical detail
What is actually diagnosed and treated here
Takayasu arteritis is diagnosed by imaging the aorta and its branches (CT, MRI, or angiography) alongside clinical findings, not by genotype. None of the 10 variants on this page are used by any guideline to diagnose the disease or predict who will develop it.
The loci described above come from genetic studies comprising, at most, a few thousand affected individuals worldwide — reflecting how rare this disease is. They point to which immune mechanisms (HLA presentation, monocyte and B-cell biology) are involved at a population level; they do not predict an individual's risk or outcome.
Related variants MyGeneLog™ checks for
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Takayasu Arteritis comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 10 of 11 linked studies with a resolved discovery ancestry.
63.6%
27.3%
East Asian · 63.6% Other named ancestries (Other) · 27.3% Not yet resolved · 9.1%
Proceedings of the National Academy of Sciences of the United States of America · 2018 · PMID 30498034
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Quoting this page
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A rare inflammatory disease of large arteries, chiefly the aorta and its major branches, that can narrow or damage vessel walls over time. It mostly affects women, often before age 40.
What is the single most important Takayasu arteritis genetic risk factor?
HLA-B*52, in the major histocompatibility complex region. It is the best-established genetic risk factor, and a 2018 study found it interacts (an epistasis effect) with a separate risk variant near LILRA3 rather than acting alone.
Why does this page link to the inflammatory bowel disease page?
The largest genetic study of Takayasu arteritis to date compared its genome-wide genetic profile against hundreds of other traits and reported that its closest relatedness is to inflammatory bowel disease — a finding stated directly by that study's own authors.
Can these variants predict whether I will get Takayasu arteritis?
No. It is diagnosed by imaging the aorta and its branches alongside clinical findings. These are population-level findings from a few thousand affected people worldwide, not a way to predict an individual case of this rare disease.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.